Emma

- Diagnosed with GATA 2 deficiency

Emma's story

A long road to diagnosis

Emma lives in Lower Hutt with her husband, Jamie, their dogs, and the two international students they look after. She has a big, close-knit family and is the eldest of five. After living in Japan as a student, Emma spent 10 years working as a flight attendant in the United States, before moving to Christchurch and eventually settling back in her hometown.

“When I moved up here, I started working at a home for pregnant teens and young mums. I did that for three years – until I became too unwell.”

It was in the United States that Emma’s health journey began. She was told by her GP that her white blood cell count was low, so she sought out a haematologist, who regularly tested her blood for eight weeks. “They said it was chronically low, but I was otherwise healthy, so they weren’t going to test my bone marrow.”

In 2012, things began to ramp up. “I was working as a flight attendant in Boston, and I developed a necrotising fasciitis inside my neck – flesh-eating bacteria.”

Emma knew her immune system was compromised, so she told the doctors at the hospital and asked if she could have antibiotics for the infection. “That’s not what they did, so it got worse. I had emergency surgery and was put in a coma for two days. I spent a total of nine days in ICU and then was in and out of hospital for the better part of that year.”

During this process, Emma’s bone marrow was finally tested. “They discovered it was myelodysplastic, meaning all the cells in the marrow were odd shapes and sizes. So even the ones I had weren’t working properly.”

Emma’s siblings were all tested to see if they might be a match for a bone marrow transplant, in case she needed one in the future. “But in my mind, that was extreme – I thought, ‘I’m never going to need that!’ And I just carried on.”

Emma and her husband moved back to New Zealand in 2016. They had been providing respite foster care for several children, but after a horrendous bout of the flu and pneumonia, Emma became too unwell and had to give this up. Not long afterwards, she was diagnosed with pulmonary hypertension.

“Over those next few years, I declined severely. I went from being really independent, managing my house, doing the shopping – all of that – to not being able to do anything.”

“I was in a wheelchair and lost sight in both my eyes.”

Emma held out for as long as she could, but eventually she had to give up work.

Finally, in 2020, Emma received an official diagnosis of GATA 2 deficiency, a rare genetic condition that was only discovered in 2011. “There’s perhaps one other person that has GATA 2 in New Zealand. It’s not common at all.”

After years of dealing with constant infections and spending increasingly more time in hospital, an immunologist suggested that Emma try Privigen, an IV antibody therapy. “That was a turning point. Since then, I’ve had it every three weeks and I’ve hardly had any infections on that. It’s remarkable.”

But even with the infections under control, Emma’s health was in bad shape. She had been struggling with breathlessness and was using supplemental oxygen overnight. When her usual haematologist returned from maternity leave in November 2022, their first appointment was not the catch-up Emma had been expecting. “She sat me down and said, ‘If you don’t have a transplant, you’re not going to make it through the year.’”

It was reconfirmed that Emma’s brother was a match, and in April 2023, Emma received her stem cell transplant. She spent four weeks in the hospital recovering, keeping busy with knitting, Lego and podcasts to try and distract herself from how awful she felt.

When she returned home from the hospital, Emma began to struggle, especially as her visits to the day ward became less frequent. “I got really low. I didn’t have a rhythm, and I didn’t have the energy to go out and do normal things. It was winter, and it sort of all just caught up with me – the enormity of it. I’d been in fight or flight mode for so long.”

“To sit with your inner thoughts and have everything around you go quiet – it’s really confronting. There has to be a level of acceptance where you come to terms with your reality, and that you might die.”

During this period, Emma was admitted back into hospital five times for various complications, including a collapsed lung and fluid around her heart.

“It was during one of the returns to hospital that I met Nicki from LBC. And she met me probably at my lowest, or close to it.”

Although Emma wishes she had been referred to LBC earlier in her illness, she’s grateful to have the support from Nicki now. “We have a good yarn. I can text her when I’m going to be in the day ward getting my treatment, and if she’s around, she’ll pop in. She’s very compassionate, and she’ll have suggestions, but mostly she’ll listen.”

Getting hooked in with LBC’s support groups was also a big relief. “During my recovery, although it took a lot of effort for me to go to those support groups, I really prioritised it.”

“A lot of the people at the groups have gone through stem cell transplants or are about to. Plus we’re on a lot of the same drugs, or have the same doctors.”

Emma is now more than a year on from her stem cell transplant, and things are a lot brighter. “I’ve been able to start looking after my nieces and nephews, and just feel like I’m part of things again – I can do things for other people. I’m in the gym most days and I volunteer at the Red Cross.”

On the day I spoke to Emma, she’d just been to a job interview, after two years of being too unwell to work. “It’s pretty exciting to be in a position to be looking at work again.”

And as someone who used to travel for a living, Emma is thrilled that international adventures are back on the cards. “I had resigned myself to the fact I probably wouldn’t get overseas again… But I’ve got a new passport, so the future is bright!”